Linked Data
dbSNP Id:
rs11345515
gnomAD v3:
5-69433153-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4:
5-69433153-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000667.2:g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000005.9:g.68729004_68729005insTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000667.1:g.68729004_68729005insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000005.8:g.68764760_68764761insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_017201.1:g.23066_23067insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | |
| NG_017201.2:g.23066_23067insTTTTTTTTTTTTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325631.10:c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | ENSP00000323264.5:n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000413223.3:c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000398922.2:n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000436532.7:c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000414776.2:n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000645446.1:c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000494616.1:n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000647531.1:c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000493858.1:n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000325631.9:c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000323264.5:n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000413223.2:c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000398922.2:n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000436532.6:c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000414776.2:n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000454295.6:c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000396244.2:n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000512803.5:c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000423490.1:n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001038603.2:c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001033692.2:n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001244734.1:c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001231663.1:n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_005248445.3:c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_005248502.1:n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_005248446.3:c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_005248503.1:n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_005248447.3:c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_005248504.1:n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_005248445.4:c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_005248502.1:n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_005248446.4:c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_005248503.1:n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_005248447.4:c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_005248504.1:n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001038603.3:c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | NP_001033692.2:n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001244734.2:c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001231663.1:n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTT... |